Canonical Allele Identifier: CA396457523

Gene: CDH1

Linked Data

• ClinVar Variation Id: 921657
• ClinVar RCV Id: RCV001181211 ; RCV002558996
• dbSNP Id: rs1960723934
• gnomAD v4: 16-68808425-C-T
• MyVariant Identifiers: chr16:g.68842328C>T (hg19) ; chr16:g.68808425C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68808425C>T , CM000678.2:g.68808425C>T	GRCh38
NC_000016.9:g.68842328C>T , CM000678.1:g.68842328C>T	GRCh37
NC_000016.8:g.67399829C>T	NCBI36
NG_008021.1:g.76134C>T , LRG_301:g.76134C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.389C>T MANE Select	ENSP00000261769.4:p.Ala130Val
ENST00000261769.9:c.389C>T	ENSP00000261769.4:p.Ala130Val
ENST00000422392.6:c.389C>T	ENSP00000414946.2:p.Ala130Val
ENST00000561751.1:c.156C>T
ENST00000562836.5:n.460C>T
ENST00000564676.5:n.671C>T
ENST00000564745.1:n.384C>T
ENST00000566510.5:c.389C>T	ENSP00000458139.1:p.Ala130Val
ENST00000566612.5:c.389C>T	ENSP00000454782.1:p.Ala130Val
ENST00000611625.4:c.389C>T	ENSP00000481063.1:p.Ala130Val
ENST00000612417.4:c.389C>T	ENSP00000478360.1:p.Ala130Val
ENST00000621016.4:c.389C>T	ENSP00000480664.1:p.Ala130Val
NM_004360.3:c.389C>T , LRG_301t1:c.389C>T	NP_004351.1:p.Ala130Val
XM_011523488.1:c.-347C>T	XP_011521790.1:n.-347C>T
XM_011523489.1:c.-347C>T	XP_011521791.1:n.-347C>T
NM_001317184.1:c.389C>T	NP_001304113.1:p.Ala130Val
NM_001317185.1:c.-1227C>T	NP_001304114.1:n.-1227C>T
NM_001317186.1:c.-1431C>T	NP_001304115.1:n.-1431C>T
NM_004360.4:c.389C>T	NP_004351.1:p.Ala130Val
NM_004360.5:c.389C>T MANE Select	NP_004351.1:p.Ala130Val
NM_001317184.2:c.389C>T	NP_001304113.1:p.Ala130Val
NM_001317185.2:c.-1227C>T	NP_001304114.1:n.-1227C>T
NM_001317186.2:c.-1431C>T	NP_001304115.1:n.-1431C>T